Article
ALS-associated mutations in FUS disrupt the axonal distribution and function of SMN.
Human molecular genetics - 15 Sept 2013
Groen Ewout J N, Fumoto Katsumi, Blokhuis Anna M, Engelen-Lee Jooyeon, Zhou Yeping, van den Heuvel Dianne M A, Koppers Max, van Diggelen Femke, van Heest Jessica, Demmers Jeroen A A, Kirby Janine, Shaw Pamela J, Aronica Eleonora, Spliet Wim G M, Veldink Jan H, van den Berg Leonard H, Pasterkamp R Jeroen
Abstract excerpt
Mutations in the RNA binding protein fused in sarcoma/translated in liposarcoma (FUS/TLS) cause amyotrophic lateral sclerosis (ALS). Although ALS-linked mutations in FUS often lead to a cytosolic mislocalization of the protein, the pathogenic mechanisms underlying these mutations remain poorly understood. To gain insight into these mechanisms, we examined the biochemical, cell biological and functional properties...
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